Abstract:
:Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare genetic disorder and has not been described in China. We present a female infant with neonatal intrahepatic cholestasis from a Chinese family with ARC syndrome. All 23 coding exons and flanking introns of the VPS33B gene were amplified and sequenced using peripheral lymphocyte genomic DNA of the patient and her parents. Genetic testing revealed two novel mutations (c.1033delA and c.1567C>T) in the VPS33B gene. The patient is a compound heterozygote and her parents were heterozygous for each of the mutations.
journal_name
World J Gastroenteroljournal_title
World journal of gastroenterologyauthors
Li LT,Zhao J,Chen R,Wang JSdoi
10.3748/wjg.v20.i1.326subject
Has Abstractpub_date
2014-01-07 00:00:00pages
326-9issue
1eissn
1007-9327issn
2219-2840journal_volume
20pub_type
杂志文章abstract::Cystic formations within the liver are a frequent finding among populations. Besides the common cystic lesions, like simple liver cysts, rare cystic liver lesions like cystadenocarcinoma should also be considered in the differential diagnosis. Thorough knowledge of each entity's nature and course are key elements to s...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v19.i43.7603
更新日期:2013-11-21 00:00:00
abstract:AIM:To investigate the growth inhibitory mechanism of four caged xanthones from Garcinia hanburyi in cholangiocarcinoma (CCA) KKU-100 and KKU-M156 cells. METHODS:Four caged xanthones, selected on the basis of their anticancer potency and chemical structure diversities (i.e. isomorellin, isomorellinol, forbesione and g...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v16.i18.2235
更新日期:2010-05-14 00:00:00
abstract:AIM:To evaluate the efficacy of stents in treating patients with anastomotic site obstructions due to cancer recurrence following colorectal surgery. METHODS:The medical records of patients who underwent endoscopic self-expanding metal stents (SEMS) insertion for colorectal obstructions between February 2004 and Janua...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v20.i38.13936
更新日期:2014-10-14 00:00:00
abstract:AIM:Different strains of bifidobacteria were analysed for their effects on HT-29 intestinal epithelial cells (IECs) in in vitro models both of the non-inflamed and inflamed intestinal epithelium. METHODS:A reporter gene system in HT-29 cells was used to measure levels of NF-kappaB activation after challenge with bifid...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v12.i23.3729
更新日期:2006-06-21 00:00:00
abstract::Metastatic breast cancer involving the hepatobiliary tract or ascites secondary to peritoneal carcinomatosis has been well described. Luminal gastrointestinal tract involvement is less common and recognition of the range of possible presentations is important for early and accurate diagnosis and treatment. We report 6...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v12.i38.6219
更新日期:2006-10-14 00:00:00
abstract:AIM:To compare long-term occurrence of gastroesophageal reflux disease (GERD) between two different types of peroral endoscopic myotomy (POEM) for achalasia. METHODS:We included all patients with achalasia who underwent POEM at our hospital from August 2011 to October 2012 and had complete GERD evaluation with ≥ 3 yea...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v22.i42.9419
更新日期:2016-11-14 00:00:00
abstract::Peritoneal carcinomatosis (PC) is one manifestation of metastatic colorectal cancer (CRC). Tumor growth on intestinal surfaces and associated fluid accumulation eventually result in bowel obstruction and incapacitating levels of ascites, which profoundly affect the quality of life for affected patients. PC appears res...
journal_title:World journal of gastroenterology
pub_type: 社论
doi:10.3748/wjg.v18.i39.5489
更新日期:2012-10-21 00:00:00
abstract:AIM:To investigate the effects of exogenous melatonin on bacterial translocation and apoptosis in a rat ulcerative colitis model. METHODS:Rats were randomly assigned to three groups: group I: control, group II: experimental colitis, group III: colitis plus melatonin treatment. On d 11 after colitis, plasma tumor necro...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.14.918
更新日期:2008-02-14 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v26.i19.2388
更新日期:2020-05-21 00:00:00
abstract:AIM:To investigate whether ANNs and LDA could recognize patients with ABG in a database, containing only clinical and biochemical variables, of a pool of patients with and without ABG, by selecting the most predictive variables and by reducing input data to the minimum. METHODS:Data was collected from 350 consecutive ...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v11.i37.5867
更新日期:2005-10-07 00:00:00
abstract:AIM:To compare prevalence rates of non-alcoholic fatty liver disease (NAFLD) between Hispanics of Mexican origin and Hispanics of Dominican and Puerto Rican origin. METHODS:We evaluated prevalence rates of NAFLD between the two largest sub-populations of Hispanics in the United States; Hispanics of Mexican origin and ...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,多中心研究
doi:10.3748/wjg.v20.i17.4987
更新日期:2014-05-07 00:00:00
abstract::The overall survival for patients with advanced hepatocellular carcinoma (HCC) is still limited. Although the multi-kinase inhibitor sorafenib has recently been approved for this disease, response rates are still low and patients often face dose-limiting toxicities which lead to a reduction in prognosis and treatment ...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v16.i28.3592
更新日期:2010-07-28 00:00:00
abstract:AIM:To evaluate the efficacy and safety of traditional Chinese surgical treatment for anal fistulae with secondary tracks and abscess. METHODS:Sixty patients with intersphincteric or transsphincteric anal fistulas with secondary tracks and abscess were randomly divided into study group [suture dragging combined with p...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,随机对照试验
doi:10.3748/wjg.v18.i40.5702
更新日期:2012-10-28 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章,meta分析,评审
doi:10.3748/wjg.v20.i35.12649
更新日期:2014-09-21 00:00:00
abstract::We review the case of a 74-year-old patient with advanced colon cancer who suffered recurrent bouts of hypoglycemia. A state of inappropriate, non-suppressed hyperinsulinism in the presence of severe hypoglycemia was diagnosed. We finally discuss the known mechanisms behind fasting hypoglycemia in patients with advanc...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.14.1952
更新日期:2008-03-28 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v11.i46.7290
更新日期:2005-12-14 00:00:00
abstract::The nasogastric tube (NGT) has become a frequently used device to alleviate gastrointestinal symptoms. Nasogastric tube syndrome (NTS) is an uncommon but potentially life-threatening complication of an indwelling NGT. NTS is characterized by acute upper airway obstruction due to bilateral vocal cord paralysis. We repo...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v22.i15.4057
更新日期:2016-04-21 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v11.i19.2927
更新日期:2005-05-21 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.14.6881
更新日期:2008-11-28 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 临床试验,杂志文章
doi:10.3748/wjg.v9.i7.1501
更新日期:2003-07-01 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v16.i15.1901
更新日期:2010-04-21 00:00:00
abstract::Transforming growth factor-beta (TGF-beta), a prototype of multifunctional cytokine, is a key regulator of extracellular matrix (ECM) assembly and remodeling. Specifically, TGF-beta isoforms have the ability to induce the expression of ECM proteins in mesenchymal cells, and to stimulate the production of protease inhi...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v13.i22.3056
更新日期:2007-06-14 00:00:00
abstract::A primary clear cell adenocarcinoma of the colon is a rare oncologic entity. We herein report a case of such a tumor of the sigmoid colon in a 71-year-old woman who was successfully treated by an endoscopic polypectomy in our hospital. We also reviewed the published reports regarding cases of primary clear cell tumors...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.14.1137
更新日期:2008-02-21 00:00:00
abstract:AIM:To demonstrate that caudate lobectomy is a valid treatment in cases of hepatocellular carcinoma (HCC) rupture in the caudate lobe based on our experience with the largest case series reported to date. METHODS:A retrospective study of eight patients presenting with spontaneous rupture and hemorrhage of HCC in the c...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v21.i26.8163
更新日期:2015-07-14 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v7.i4.563
更新日期:2001-08-01 00:00:00
abstract:AIM:To investigate the effectiveness of antioxidant compounds in modulating mitochondrial oxidative alterations and lipids accumulation in fatty hepatocytes. METHODS:Silybin-phospholipid complex containing vitamin E (Realsil(®)) was daily administered by gavage (one pouch diluted in 3 mL of water and containing 15 mg ...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v19.i20.3007
更新日期:2013-05-28 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章,meta分析,评审
doi:10.3748/wjg.v18.i40.5779
更新日期:2012-10-28 00:00:00
abstract:AIM:To investigate whether potent acid inhibition is effective in non-erosive reflux disease (NERD) refractory to standard rabeprazole (RPZ) treatment. METHODS:We treated 10 Japanese patients with NERD resistant to standard dosages of RPZ: 10 mg or 20 mg od, 20 mg bid, or 10 mg qid for 14 d. All patients completed a f...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v17.i14.1858
更新日期:2011-04-14 00:00:00
abstract::A case of pedunculated Brunner's gland hamartoma (BGH) of the duodenum causing upper gastrointestinal (GI) hemorrhage is reported. The patient was a 47-year-old man who visited our hospital for further evaluation of tarry stools and shortness of breath. Endoscopic examination of the upper digestive tract revealed a la...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.15.373
更新日期:2009-01-21 00:00:00
abstract:AIM:To investigate genetic factors that might help define which Crohn's disease (CD) patients are likely to benefit from anti-tumor necrosis factor (TNF) therapy. METHODS:This was a prospective cohort study. Patients were recruited from a university digestive disease practice database. We included CD patients who rece...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v23.i27.4958
更新日期:2017-07-21 00:00:00